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Research paper thumbnail of Cardiac troponin I: A potent biomarker for myocardial damage assessment following high voltage electric burn

Indian Journal of Plastic Surgery, 2016

ABSTRACTMyocardial infarction (MI) following high voltage electric burn is very rare, and its pat... more ABSTRACTMyocardial infarction (MI) following high voltage electric burn is very rare, and its pathogenesis remains controversial. Electrical burns represent only 4% of all burns. Hence, clinical managements have taken a slow pace in developing. The recent guidelines laid down by the cardiology societies include cardiac troponin I (cTnI) as the gold standard marker for the assessment of myocardial damage assessment. Two patients were admitted to our hospital at the different time with the same kind of high voltage electric burn. Both patients had complained with chest discomfort during admission, and cardiac parameter assessment was done for both the patients. cTnI was also measured for both patients, and marked increase in the values was seen within 5 h of onset of myocardial damage and got into normal range within 72 h. Myocardial damage following electric burn needs to be suspected and assessed as early as possible. Hence, cTnI should be the valuable tool to detect the severity of...

Research paper thumbnail of Severe post-partum autoimmune hypothyroidism associated with a novel loss-of-function mutation in intracellular domain of human thyrotropin receptor

Medical Studies, 2016

Several loss-of-function TSHR gene mutations have been reported previously. In the present study,... more Several loss-of-function TSHR gene mutations have been reported previously. In the present study, a mutation in exon 10 of the TSHR gene was studied. A 35-year-old mother of two children attended our hospital with symptoms of hypothyroidism after her second delivery. She had elevated levels of thyroid hormones including both the thyroid antibodies and those treated with L-thyroxine. In the present study, exon 10 of the TSHR gene of the patient was studied. Sequencing of exon 10 revealed a G to T transversion, resulting in a loss of function mutation changing glutamic acid 757 to stop codon, (E757Stop) in the intracellular domain of TSH receptor and also C to T transition, leading to no change in amino acid sequence (glycine to glycine at 753 amino acid position). We report a novel sporadic loss of function mutation in TSHR protein at codon 757 (E757Stop). Streszczenie Publikacje na temat mutacji utraty funkcji genu TSHR pojawiały się już wcześniej. W prezentowanej pracy zbadano mutację w pozycji eksonu 10 genu TSHR. Do szpitala zgłosiła się 35-letnia matka dwojga dzieci z objawami niedoczynności tarczycy po drugim porodzie. Miała podwyższony poziom hormonów tarczycy, w tym zarówno przeciwciał przeciwtarczycowych, jak i L-tyroksyny. W pracy przestudiowano ekson 10 genu TSHR pacjentki. Przy sekwencjonowaniu eksonu 10 odkryto transwersję G do T, czego skutkiem jest mutacja utraty funkcji zmieniająca kwas glutaminowy 757 na kodon stop (E757Stop) w wewnątrzkomórkowej domenie receptora TSH, a także przejście C do T, nieprowadzące do żadnej zmiany w sekwencji aminokwasu glutaminowego (glycine to glycine w pozycji aminokwasu 753). Przedstawiamy raport na temat nowej sporadycznej mutacji utraty funkcji w białku TSHR w pozycji kodonu 757 (E757Stop).

Research paper thumbnail of An enumeration of the prevalence of hypothyroidism during pregnancy in central India

Clinical Epidemiology and Global Health, 2015

c l i n i c a l e p i d e m i o l o g y a n d g l o b a l h e a l t h 3 (2 0 1 5) s 3 4-s 3 7

Research paper thumbnail of Cardiac troponin I: A potent biomarker for myocardial damage assessment following high voltage electric burn

Indian Journal of Plastic Surgery, 2016

ABSTRACTMyocardial infarction (MI) following high voltage electric burn is very rare, and its pat... more ABSTRACTMyocardial infarction (MI) following high voltage electric burn is very rare, and its pathogenesis remains controversial. Electrical burns represent only 4% of all burns. Hence, clinical managements have taken a slow pace in developing. The recent guidelines laid down by the cardiology societies include cardiac troponin I (cTnI) as the gold standard marker for the assessment of myocardial damage assessment. Two patients were admitted to our hospital at the different time with the same kind of high voltage electric burn. Both patients had complained with chest discomfort during admission, and cardiac parameter assessment was done for both the patients. cTnI was also measured for both patients, and marked increase in the values was seen within 5 h of onset of myocardial damage and got into normal range within 72 h. Myocardial damage following electric burn needs to be suspected and assessed as early as possible. Hence, cTnI should be the valuable tool to detect the severity of...

Research paper thumbnail of Severe post-partum autoimmune hypothyroidism associated with a novel loss-of-function mutation in intracellular domain of human thyrotropin receptor

Medical Studies, 2016

Several loss-of-function TSHR gene mutations have been reported previously. In the present study,... more Several loss-of-function TSHR gene mutations have been reported previously. In the present study, a mutation in exon 10 of the TSHR gene was studied. A 35-year-old mother of two children attended our hospital with symptoms of hypothyroidism after her second delivery. She had elevated levels of thyroid hormones including both the thyroid antibodies and those treated with L-thyroxine. In the present study, exon 10 of the TSHR gene of the patient was studied. Sequencing of exon 10 revealed a G to T transversion, resulting in a loss of function mutation changing glutamic acid 757 to stop codon, (E757Stop) in the intracellular domain of TSH receptor and also C to T transition, leading to no change in amino acid sequence (glycine to glycine at 753 amino acid position). We report a novel sporadic loss of function mutation in TSHR protein at codon 757 (E757Stop). Streszczenie Publikacje na temat mutacji utraty funkcji genu TSHR pojawiały się już wcześniej. W prezentowanej pracy zbadano mutację w pozycji eksonu 10 genu TSHR. Do szpitala zgłosiła się 35-letnia matka dwojga dzieci z objawami niedoczynności tarczycy po drugim porodzie. Miała podwyższony poziom hormonów tarczycy, w tym zarówno przeciwciał przeciwtarczycowych, jak i L-tyroksyny. W pracy przestudiowano ekson 10 genu TSHR pacjentki. Przy sekwencjonowaniu eksonu 10 odkryto transwersję G do T, czego skutkiem jest mutacja utraty funkcji zmieniająca kwas glutaminowy 757 na kodon stop (E757Stop) w wewnątrzkomórkowej domenie receptora TSH, a także przejście C do T, nieprowadzące do żadnej zmiany w sekwencji aminokwasu glutaminowego (glycine to glycine w pozycji aminokwasu 753). Przedstawiamy raport na temat nowej sporadycznej mutacji utraty funkcji w białku TSHR w pozycji kodonu 757 (E757Stop).

Research paper thumbnail of An enumeration of the prevalence of hypothyroidism during pregnancy in central India

Clinical Epidemiology and Global Health, 2015

c l i n i c a l e p i d e m i o l o g y a n d g l o b a l h e a l t h 3 (2 0 1 5) s 3 4-s 3 7

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